DO MTTP MUTATIONS OVERCOME HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA? SEGREGATION ANALYSIS IN A FAMILY WITH BOTH LDLR AND MTTP MUTATIONS

被引：0
|
作者：
Di Filippo, M. [1 ,2 ]
Peretti, N. [2 ,3 ]
Moulin, P. [2 ,4 ,5 ]
Jacobs, C. [1 ]
Chebel, S. [1 ]
Lachaux, A. [3 ]
Sassolas, A. [1 ,2 ]
机构：
[1] Hosp Civils Lyon, Dept Biochem, Lyon, France
[2] INSERM, U1060, CarMeN, Lyon, France
[3] Dept Pediat Gastroenterol, Lyon, France
[4] Hosp Civils Lyon, Dept Endocrinol, Lyon, France
[5] Univ Lyon 1, F-69365 Lyon, France
来源：
ATHEROSCLEROSIS SUPPLEMENTS | 2011年 / 12卷 / 01期
关键词：
D O I：
暂无
中图分类号：
R6 [外科学];
学科分类号：
1002 ; 100210 ;
摘要：
251
引用
收藏
页码：55 / 55
页数：1
相关论文
共 50 条
  • [21] Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia
    Hernandez Flores, Teresita De Jesus
    Gonzalez Garcia, Juan Ramon
    Colima Fausto, Ana Gabriela
    Vazquez Cardenas, Norma Alejandra
    Sanchez Lopez, Yoaly
    Zarate Morales, Cesar Augusto
    Magana Torres, Maria Teresa
    JOURNAL OF CLINICAL LIPIDOLOGY, 2018, 12 (03) : 693 - 701
  • [22] GENETIC MUTATIONS AND LIPID-LOWERING RESPONSE IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
    Kim, H.
    Lee, S. H.
    ATHEROSCLEROSIS, 2020, 315 : E97 - E98
  • [23] LDLR, PCSK9, AND LDLRAP1 MUTATIONS IN THE SAME PATIENT IN A FAMILIAL HYPERCHOLESTEROLEMIA (FH) FAMILY
    Cocci, Guido
    Cenci, Alessandra
    Bordicchia, Marica
    Sarzani, Riccardo
    ATHEROSCLEROSIS, 2017, 263 : E232 - E232
  • [24] FAMILIAL HYPERCHOLESTEROLEMIA-CLINICAL CHARACTERISTICS OF PATIENTS WITH LDLR, APOB MUTATIONS & NO MUTATIONS-SINGLE CENTRE STUDY
    Dissanayake, S.
    Ting, S. Pek Lai
    Xueqin, M. Lin
    Liang, E. Chan Zit
    Wan, J. Fong Choi
    Lee, Z.
    I-Shing, J. Tang
    Lee, C.
    Lim, S.
    Sum, C.
    Tavintharan, S.
    ATHEROSCLEROSIS, 2018, 275 : E166 - E167
  • [25] Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations
    Callis, M
    Jansen, S
    Thiart, R
    de Villiers, JNP
    Raal, FJ
    Kotze, MJ
    MOLECULAR AND CELLULAR PROBES, 1998, 12 (03) : 149 - 152
  • [26] SPECTRUM OF LDLR GENE MUTATIONS, CAUSING FAMILIAL HYPERCHOLESTEROLEMIA (FH) IN GREECE: UN UPDATE
    Koniari, E.
    Skouma, A.
    Dragoti, A.
    Garoufi, A.
    Maroulis, V.
    Papadakis, M.
    Chrousos, G.
    ATHEROSCLEROSIS, 2020, 315 : E69 - E69
  • [27] Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy
    Romano, Maria
    Di Taranto, Maria Donata
    D'Agostino, Maria Nicoletta
    Marotta, Gennaro
    Gentile, Marco
    Abate, Giovanna
    Mirabelli, Peppino
    Di Noto, Rosa
    Del Vecchio, Luigi
    Rubba, Paolo
    Fortunato, Giuliana
    ATHEROSCLEROSIS, 2010, 210 (02) : 493 - 496
  • [28] Molecular Basis of Familial Hypercholesterolemia in Brazil: Identification of Seven Novel LDLR Gene Mutations
    Salazar, Luis A.
    Hirata, Mario H.
    Cavalli, Selma A.
    Nakandakare, Edna R.
    Forti, Neusa
    Diament, Jaime
    Giannini, Sergio D.
    Bertolami, Marcelo C.
    Hirata, Rosario D. C.
    HUMAN MUTATION, 2002, 19 (04) : 462 - 463
  • [29] MOLECULAR CHARACTERIZATION OF POLISH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA: NOVEL AND RECURRENT LDLR GENE MUTATIONS
    Chmara, M.
    Kubalska, J.
    Bednarska-Makaruk, M.
    Wegrzyn, A.
    Pronicka, E.
    Wehr, A.
    Rynkiewicz, A.
    Limon, J.
    ATHEROSCLEROSIS SUPPLEMENTS, 2008, 9 (01) : 111 - 111
  • [30] An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in Familial Hypercholesterolemia
    Rabacchi, Claudio
    Wunsch, Alessia
    Ghisellini, Margherita
    Marino, Marco
    Pisciotta, Livia
    Bertolini, Stefano
    Calandra, Sebastiano
    CLINICA CHIMICA ACTA, 2009, 406 (1-2) : 75 - 80
12345